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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POLG, POLGARF
(R964C)
Single nucleotide variant
(missense variant)
not provided
+8 more
GConflicting classifications of pathogenicity
MT-TL1
Single nucleotide variant
Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1
+12 more
GPathogenic/Likely pathogenic
MT-ND5
Single nucleotide variant
Mitochondrial disease
GLikely pathogenic
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